Severe Periodontitis in adults with Chronic Granulomatous Disease
Introduction Chronic Granulomatous Disease (CGD) is an inborn error of immunity characterized […]
Severe Periodontitis in adults with Chronic Granulomatous Disease Read More »
Case report
Invasive Nocardia infection in Cartilage-Hair Hypoplasia (CHH)
Introduction: CHH RMRP related disease is an autosomal recessive disorder, characterised by
Invasive Nocardia infection in Cartilage-Hair Hypoplasia (CHH) Read More »
When inflammation becomes a TRAP
Introduction: Genetic alterations in components of inflammatory pathways can lead to autoinflammatory
When inflammation becomes a TRAP Read More »
Genetic over clinical diagnosis? Ataxia telangiectasia with heterozygous mutation
Introduction Ataxia telangiectasia (A-T) is a rare genetic form of early-onset autosomal
Genetic over clinical diagnosis? Ataxia telangiectasia with heterozygous mutation Read More »
Management and treatment in TTC7A-deficiency patients with VEOIBD-MIA-CID
Introduction: Multiple intestinal atresia with combined immune deficiency (MIA-CID) is a rare
Management and treatment in TTC7A-deficiency patients with VEOIBD-MIA-CID Read More »
Chronic granulomatous disease in adults
INTRODUCTION Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes
Chronic granulomatous disease in adults Read More »
Infecciones de tejidos blandos de repetición como manifestación de inmunodeficiencia común variable
Introducción. La inmunodeficiencia común variable (IDCV) es un grupo heterogéneo de errores
First patient diagnosed with CVID with a new heterozygous variant in NFKB1 in Hospital El Cruce Buenos Aires
Introduction: This is the first patient with CVID with a new heterozygous
Afección neurológica como primera manifestación de inmunodeficiencia común variable en paciente con antecedente de vitíligo e infertilidad. Reporte de caso
Introducción: Las infecciones recurrentes a nivel pulmonar y gastrointestinales son los procesos
Un caso clínico de Wiskott Aldrich y su asociación con sarcoma
Introducción El Síndrome de Wiskott Aldrich (SWA) ligado a X, es una
Un caso clínico de Wiskott Aldrich y su asociación con sarcoma Read More »
